Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population

Despite extensive research of genetic determinants of human adult height, the genes identified up until now allow to predict only a small proportion of the trait’s variance. To identify new genes we analyzed 2,486 genotyped and phenotyped individuals in a large pedigree including 23,612 members in 18 generations. The pedigree was derived from a young genetically isolated Dutch population, where genetic heterogeneity is expected to be low and linkage disequilibrium has been shown to be increased. Complex segregation analysis confirmed high heritability of adult height, and suggested mixed model of height inheritance in this population. The estimates of the model parameters obtained from complex segregation analysis were used in parametric linkage analysis, which highlighted three genome-wide significant and additionally at least four suggestive loci involved in height. Significant peaks were located at the chromosomal regions 1p32 (LOD score = 3.35), 2p16 (LOD score = 3.29) and 16q24 (LOD score = 3.94). For the latter region, a strong association signal (FDR q < 0.05) was obtained for 19 SNPs, 17 of them were located in the CDH13 (cadherin 13) gene of which one (rs1035569) explained 1.5% of the total height variance.     

The comprehensive diagnosis of changes in the stomach and small intestine in patients with chronic colitis

Combined investigation of 121 patients with chronic colitis (CC) has shown chronic gastroduodenitis in 90.9% and the intestinal malabsorption syndrome in all the patients. Comparison of the frequency of intestinal malabsorption symptoms has shown that they are less marked in CC than in chronic enterocolitis with predominant intestinal lesion.     

Specific Features of Phosphate Transformation on Rhodobacter sphaeroides Chromatophores

ATP production has been shown to take place on illumination of Rhodobacter sphaeroides chromatophores by a single light flash, i.e., in the absence of a proton gradient (which would form as a result of electron transport should a second flash occur). ATP synthesis was accompanied by H₂O₂ formation. Simultaneous formation of ATP and H₂O₂ is indicative of oxidative activation of phosphate during ATP synthesis, as in model systems with isolated chlorophyll. These data provide a theoretical background for selecting illumination parameters in laboratory and industrial photobioreactors used for cultivation of photosynthetic bacteria in biotechnological processes.     

Effect of hemosorption on the ultrastructure of hepatocytes in toxic liver damage

Extracorporeal perfusion of toxic blood via carbonic sorbents is an effective method for correcting severe disturbances of hemostasis. Ultrastructural alterations in hepatic cells were studied in experimental toxic liver injury before and after hemosorption. It was established that after hemosorption the processes of intracellular regeneration were significantly activated in the liver parenchyma. The number of crysts in the mitochondria increased as did the electronic density of the matrix. At the same time the number of lysosomes rose as well. However, in persistent unresolved cholestasis, destructive alterations in the hepatic tissue progressed despite the performance of hemosorption.     

Structure of sterically hindered aryl derivatives of five-membered nitrogen containing heterocyclicortho-analogs of POPOP

The molecular conformation of three newly synthesized, sterically hindered aryl derivatives of five-membered nitrogen-containing heterocyclicortho-analogs of POPOP were studied by X-ray analysis and vibrational spectroscopy. It was shown that molecules of the compounds in the crystalline state and in solution are non-planar and asymmetric.     

Isolation and characteristics of rifampicin-resistant mutants of Streptomyces erythraeus strain

Erythromycin-producing strains of S. erythraeus were characterized with respect to formation of spontaneous and induced rifampicin-resistant mutants. It was shown that the frequency of spontaneous rifampicin-resistant mutants formed by various strains amounted to 0.9.10(-8) = 9.1.10(-7). In some events the exposure to nitrosoguanidine increased the frequency of such mutants by 2 orders of magnitude. The rifampicin-resistant mutants differed in antibiotic resistance. It was found that a significant part of the rifampicin-resistant mutants became sensitive to heating (19.1 per cent) and lost the ability to form aeromycelium (21.8 per cent).